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Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing

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Description scientific article published on 6 March 2018
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author: Rahul Mahajan  Inusha Panigrahi 

Publication date March 6, 2018
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